Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia---Review / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1654-1657, 2021.
Article
en Zh
| WPRIM
| ID: wpr-922311
Biblioteca responsable:
WPRO
ABSTRACT
Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Ribosomas
/
Anemia de Diamond-Blackfan
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Año:
2021
Tipo del documento:
Article